PDLIM3

PDZ and LIM domain 3
OMIM: 605889, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red PDLIM3 in Dilated Cardiomyopathy


Level 2: Cardiovascular disorders
Version 1.54

Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • ClinGen
    Phenotypes
    • Dilated cardiomyopathy, MONDO:0005021
    Tags
    • disputed

    Red PDLIM3 in Hypertrophic cardiomyopathy_HCM


    Level 2: Cardiovascular disorders
    Version 1.20

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Hypertrophic cardiomyopathy

    Red PDLIM3 in Mendeliome


    Version 1.3795

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • ClinGen
    • Expert Review Red
    • Literature
    Phenotypes
    • Hypertrophic cardiomyopathy
    • Dilated cardiomyopathy, MONDO:0005021
    Tags
    • SV/CNV
    • disputed

    Red PDLIM3 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.208

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Literature
    • South West GLH
    • NHS GMS
    Phenotypes
    • Hypertrophic cardiomyopathy

    Red PDLIM3 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Cardiomyopathy, dilated

    Red PDLIM3 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

    0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Cardiomyopathy, dilated